Variant report

Variant	rs626785
Chromosome Location	chr1:149881900-149881901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149880956..149883194-chr1:149982043..149984194,2	K562	blood:
2	chr1:149880183..149882456-chr1:149982190..149984194,2	K562	blood:

Variant related genes	Relation type
ENSG00000163113	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16835135	0.86[YRI][hapmap]
rs577935	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs68002561	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs626785	APH1A	cis	parietal	SCAN
rs626785	OTUD7B	cis	parietal	SCAN
rs626785	CHD1L	cis	cerebellum	SCAN
rs626785	C1orf51	cis	cerebellum	SCAN
rs626785	POLR3GL	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149871800-149887400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:149872000-149887400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:149872000-149887600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:149872000-149887600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:149872000-149887800	Weak transcription	HSMMtube	muscle
6	chr1:149872200-149882400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:149872200-149882800	Weak transcription	Small Intestine	intestine
8	chr1:149872200-149884200	Weak transcription	Fetal Brain Male	brain
9	chr1:149872200-149885600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:149872200-149887400	Weak transcription	Right Atrium	heart
11	chr1:149872200-149887600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:149872200-149887600	Weak transcription	NH-A	brain
13	chr1:149872200-149887800	Weak transcription	Placenta	Placenta
14	chr1:149872200-149888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:149872200-149888200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:149872200-149888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:149872200-149888400	Weak transcription	Esophagus	oesophagus
18	chr1:149872400-149884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:149872400-149885800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:149872400-149887400	Weak transcription	Spleen	Spleen
21	chr1:149872400-149887600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:149872400-149888200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:149872400-149888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:149872400-149888400	Weak transcription	Right Ventricle	heart
25	chr1:149872600-149886000	Weak transcription	Primary T cells from cord blood	blood
26	chr1:149872600-149886000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:149872600-149887200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:149872600-149887200	Weak transcription	Fetal Kidney	kidney
29	chr1:149872600-149887400	Weak transcription	Fetal Lung	lung
30	chr1:149872600-149888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:149873800-149885400	Strong transcription	Dnd41	blood
32	chr1:149874600-149882600	Strong transcription	Brain Germinal Matrix	brain
33	chr1:149874800-149885400	Strong transcription	Brain Anterior Caudate	brain
34	chr1:149874800-149885600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:149874800-149885800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:149875000-149884400	Strong transcription	Fetal Brain Female	brain
37	chr1:149875000-149884600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr1:149875000-149885400	Strong transcription	NHLF	lung
39	chr1:149875000-149885600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:149875000-149885600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:149875000-149885600	Strong transcription	Fetal Stomach	stomach
42	chr1:149875000-149886000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:149875000-149886200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:149875200-149885600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:149875200-149887400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:149875400-149885600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:149875400-149885600	Strong transcription	Brain Hippocampus Middle	brain
48	chr1:149875400-149885800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr1:149875600-149886000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:149875800-149884600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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